Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610285 | SCV000717770 | likely benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000650345 | SCV000772188 | benign | Developmental and epileptic encephalopathy, 36 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000650345 | SCV002524928 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000650345 | SCV002803325 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-10-20 | criteria provided, single submitter | clinical testing |